Linked Data
dbSNP Id:
rs761326016
ExAC:
5:112178179 T / G
gnomAD v2:
5-112178179-T-G
gnomAD v4:
5-112842482-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842482T>G , CM000667.2:g.112842482T>G | GRCh38 |
| NC_000005.9:g.112178179T>G , CM000667.1:g.112178179T>G | GRCh37 |
| NC_000005.8:g.112206078T>G | NCBI36 |
| NG_008481.4:g.154962T>G , LRG_130:g.154962T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6942T>G | ENSP00000473355.2:p.Ser2314Arg | |
| ENST00000505350.2:c.*6894T>G | ENSP00000481752.1:n.*6894T>G | |
| ENST00000507379.6:c.6834T>G | ENSP00000423224.2:p.Ser2278Arg | |
| ENST00000509732.6:c.6888T>G | ENSP00000426541.2:p.Ser2296Arg | |
| ENST00000512211.7:c.6888T>G | ENSP00000423828.3:p.Ser2296Arg | |
| ENST00000257430.9:c.6888T>G MANE Select | ENSP00000257430.4:p.Ser2296Arg | |
| ENST00000257430.8:c.6888T>G | ENSP00000257430.4:p.Ser2296Arg | |
| ENST00000508376.6:c.6888T>G | ENSP00000427089.2:p.Ser2296Arg | |
| ENST00000508624.5:c.*6210T>G | ENSP00000424265.1:n.*6210T>G | |
| ENST00000520401.1:c.230+13510T>G | ||
| NM_000038.5:c.6888T>G | NP_000029.2:p.Ser2296Arg | |
| NM_001127510.2:c.6888T>G | NP_001120982.1:p.Ser2296Arg | |
| NM_001127511.2:c.6834T>G | NP_001120983.2:p.Ser2278Arg | |
| NM_001354895.1:c.6888T>G | NP_001341824.1:p.Ser2296Arg | |
| NM_001354896.1:c.6942T>G | NP_001341825.1:p.Ser2314Arg | |
| NM_001354897.1:c.6918T>G | NP_001341826.1:p.Ser2306Arg | |
| NM_001354898.1:c.6813T>G | NP_001341827.1:p.Ser2271Arg | |
| NM_001354899.1:c.6804T>G | NP_001341828.1:p.Ser2268Arg | |
| NM_001354900.1:c.6765T>G | NP_001341829.1:p.Ser2255Arg | |
| NM_001354901.1:c.6711T>G | NP_001341830.1:p.Ser2237Arg | |
| NM_001354902.1:c.6615T>G | NP_001341831.1:p.Ser2205Arg | |
| NM_001354903.1:c.6585T>G | NP_001341832.1:p.Ser2195Arg | |
| NM_001354904.1:c.6510T>G | NP_001341833.1:p.Ser2170Arg | |
| NM_001354905.1:c.6408T>G | NP_001341834.1:p.Ser2136Arg | |
| NM_001354906.1:c.6039T>G | NP_001341835.1:p.Ser2013Arg | |
| NM_000038.6:c.6888T>G MANE Select | NP_000029.2:p.Ser2296Arg | |
| NM_001127510.3:c.6888T>G | NP_001120982.1:p.Ser2296Arg | |
| NM_001127511.3:c.6834T>G | NP_001120983.2:p.Ser2278Arg | |
| NM_001354895.2:c.6888T>G | NP_001341824.1:p.Ser2296Arg | |
| NM_001354896.2:c.6942T>G | NP_001341825.1:p.Ser2314Arg | |
| NM_001354897.2:c.6918T>G | NP_001341826.1:p.Ser2306Arg | |
| NM_001354898.2:c.6813T>G | NP_001341827.1:p.Ser2271Arg | |
| NM_001354899.2:c.6804T>G | NP_001341828.1:p.Ser2268Arg | |
| NM_001354900.2:c.6765T>G | NP_001341829.1:p.Ser2255Arg | |
| NM_001354901.2:c.6711T>G | NP_001341830.1:p.Ser2237Arg | |
| NM_001354902.2:c.6615T>G | NP_001341831.1:p.Ser2205Arg | |
| NM_001354903.2:c.6585T>G | NP_001341832.1:p.Ser2195Arg | |
| NM_001354904.2:c.6510T>G | NP_001341833.1:p.Ser2170Arg | |
| NM_001354905.2:c.6408T>G | NP_001341834.1:p.Ser2136Arg | |
| NM_001354906.2:c.6039T>G | NP_001341835.1:p.Ser2013Arg |